uniQure's AMT-191 Receives Orphan Drug Status for Fabry Disease

LEXINGTON, Mass. and AMSTERDAM, Sept. 23, 2024 - uniQure N.V. (NASDAQ: QURE), a prominent gene therapy company dedicated to developing transformative treatments for patients with serious medical conditions, announced that the U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation to its investigational gene therapy, AMT-191, for the treatment of Fabry disease, a rare genetic disorder. In August 2024, uniQure began dosing the first patient in its U.S.-based, multi-center, open-label Phase I/IIa trial of AMT-191.

"This significant designation underscores the necessity for innovative gene therapies like AMT-191 for Fabry disease patients, as current chronic treatments are not sufficiently effective," said Walid Abi-Saab, M.D., chief medical officer of uniQure. "This designation supports our ongoing Phase I/IIa clinical trial, and we anticipate generating clinical proof-of-concept data, with initial results expected in 2025."

Fabry disease is caused by a mutation in the galactosidase alpha (GLA) gene, leading to a deficiency of the enzyme α-galactosidase A (aGAL-A). This deficiency results in the accumulation of lipids in various cell types, including those in the kidneys and heart, leading to a multi-system disorder. AMT-191 is designed as a one-time intravenous gene therapy using an AAV5 vector to deliver a GLA transgene, targeting the liver to produce the GLA protein.

The Phase I/IIa clinical trial for AMT-191 is being conducted in the United States and involves two cohorts of up to six adult male patients each. These cohorts will receive either a low dose of 6x10^13 gc/kg or a high dose of 3x10^14 gc/kg through a single intravenous infusion. Patients will continue their regular enzyme replacement therapy until specific criteria for withdrawal are met and will be monitored for 24 months. The trial aims to assess the safety, tolerability, and preliminary efficacy by measuring the expression of the lysosomal enzyme aGLA-A. Further details are available on the clinical trials website under the identifier NCT06270316.

The FDA’s Orphan Drug Designation is granted to investigational drugs for rare diseases affecting fewer than 200,000 people in the United States. This designation offers various benefits, including tax credits, grants, exemption from certain administrative fees for clinical trials, and seven years of market exclusivity following the drug's approval.

Fabry disease is an X-linked genetic disorder resulting from a deficiency of GLA. According to a 2020 study published in the Journal of Therapeutics and Clinical Risk Management, the prevalence of Fabry disease is estimated to be between one in 40,000 and one in 117,000 individuals. The current standard treatment involves bi-weekly infusions of enzyme replacement therapy, which is often limited in its effectiveness due to poor substrate clearance in target organs like the kidney and heart.

uniQure is a pioneer in gene therapy, developing treatments that offer potentially curative results with a single administration. The company's gene therapy for hemophilia B marks a historic milestone in genomic medicine, opening new therapeutic avenues for hemophilia patients. UniQure is further advancing its pipeline of proprietary gene therapies targeting Huntington's disease, refractory temporal lobe epilepsy, ALS, Fabry disease, and other severe disorders.